Table 1. Characteristics of the boys with HH.
| Case | Family history | Malformation | Age at | Micropenis | Cryptorchidism | Testis volume | LH basal | LH peak | FSH basal | FSH peak | Inhibin B | AMH | MRI | Diagnosis |
| Syndrome | diagnosis, yr | L/R | mL | U/L | U/L | U/L | U/L | pg/mL | pmol/L | Olfactive bulbs | ||||
| 1 | 3 maternal cousins: behavioral disorder | bilateral nystagmus,cerebellar syndrome, psychomotor delay,deafness,cleft palate,IUGR | birth | 1 | R | 3.75 | 0.4 | 1.1 | 0.9 | 3.6 | 96 | 385 | absent | KS |
| 2 | brother and mother: KS | club foot | birth | 1 | 0 | 0.4 | 0.2 | 0.38 | 95 | 128 | NA | KS | ||
| 3 | brother and mother: KS | birth | 1 | 0 | 1.5 | 0.2 | 1.2 | 1.2 | 5.3 | 80 | 134 | NA | KS | |
| 4 | birth | 1 | L+R | NA | 0.1 | 1.6 | 0.3 | 1.5 | 33 | 309 | normal | HH | ||
| 5 | CHARGE | birth | 1 | L+R | NA | <0.2 | 0.89 | <0.2 | 3.9 | NA | NA | NA | CHARGE | |
| 6 | 3 paternal uncles: KS + ichtyosis | ichtyosis | 0.1 | 1 | 0 | NA | 0.3 | 0.5 | NA | NA | NA | KS: KAL1 mutation + STS | ||
| 7 | mother: medical interruption of pregnancy at 20 weeks gestation for IUGR, hydrops and not ovaries 46,XX | 0.1 | 1 | 0 | 4 | 0.4 | 2.5 | 0.4 | 8.7 | 13 | 4 | normal | HH | |
| 8 | bilateral cataract | 0.1 | 1 | L+R | 1.5 | 0.2 | 0.9 | 0.2 | 1.1 | 184 | 765 | normal | HH | |
| 9 | 0.1 | 1 | L+R | NA | 0.57 | 3.5 | 1.6 | 16.5 | NA | NA | NA | HH | ||
| 10 | brother: micropenis, | coloboma, cataract,microcephaly, axial hypotonia,peripheral hypertonia,deafness, malformation of the inner and external ear,aortic insufficiency,long finger | 0.1 | 1 | L+R | NA | <0.4 | 2.5 | <0.4 | 3.1 | NA | NA | normal | HH |
| 11 | oculomotor congenital apraxia | 0.2 | 1 | L+R | NA | 0.4 | 0.5 | 0.4 | 0.6 | 580 | normal | HH | ||
| 12 | 0.2 | 1 | L+R | NA | 0.7 | 1.1 | 0.4 | 0.4 | 209 | 970 | normal | HH:PROKR2 mutation | ||
| 13 | brother: cryptorchidism | 0.2 | 1 | L+R | NA | 0.1 | 3.8 | 0.7 | 29 | 50 | 315 | absent | KS | |
| 14 | 0.3 | 1 | R | 2 | 0.21 | 3 | 1.3 | 12 | 24 | 174 | absent | KS; FGR1 mutation | ||
| 15 | 0.4 | 1 | 0 | NA | 0.6 | 0.4 | NA | NA | NA | HH | ||||
| 16 | 0.6 | 1 | L+R | NA | 0.38 | 1.2 | <0.2 | 3.5 | NA | NA | normal | HH | ||
| 17 | 0.7 | 1 | 0 | 2 | 0.2 | 0.3 | NA | NA | normal | HH | ||||
| 18 | 0.7 | 1 | R | 2 | 0.2 | 1.3 | 1 | 4.2 | 22 | 285 | NA | HH | ||
| 19 | 1 | 1 | L+R | NA | 0.5 | 1.1 | 0.4 | 2.1 | 48 | 660 | normal | HH | ||
| 20 | 1 | 1 | L+R | 0.9 | 0.2 | 3.7 | 0.56 | 13 | NA | NA | absent | KS | ||
| 21 | strabismus | 1 | 1 | L+R | NA | 0.5 | 3.7 | 0.4 | 0.4 | NA | NA | NA | HH | |
| 22 | 1 | 1 | L+R | 5 | 0.4 | 1.7 | 0.4 | 4.2 | 15 | 113 | normal | HH | ||
| 23 | 2 | 1 | L+R | NA | 0.5 | 1.8 | 0.37 | 6.4 | NA | NA | normal | HH | ||
| 24 | cleft lip and palate | 2 | 1 | 0 | 1.5 | NA | NA | NA | NA | 85 | 431 | NA | HH | |
| 25 | brother: cryptorchidism and mother precocious ménopause | 3.5 | 1 | L+R | 1.05 | 0.2 | 1.6 | 0.55 | 10.2 | NA | NA | NA | HH | |
| 26 | hypospadias | 7 | 1 | 0 | NA | 0.5 | 0.5 | 0.7 | 0.7 | NA | NA | NA | HH | |
| 27 | microphtalmia, coloboma, semicircular canals anomalies,sleep apnea | 7.5 | 1 | 0 | <4 | 0.1 | 1.2 | 0.2 | 1.7 | 10 | 88 | NA | CHARGE | |
| 28 | behavioral disorder, deafness | 8.2 | 0 | L+R | 2 | 0.4 | nc | 0.4 | nc | 22 | 68 | NA | HH | |
| 29 | 9.3 | NA | 0 | 3.8 | 0.1 | 4.1 | 2.4 | 7.8 | 83 | 826 | R absent | KS | ||
| 30 | spinal muscular atrophy | 9.3 | NA | L+R | NA | <0.2 | 0.43 | <0.2 | 0.94 | NA | NA | NA | HH | |
| 31 | father: cryptorchidism | 10.5 | 1 | L | 1.5 | nc | 1.5 | nc | 1.3 | NA | NA | L hypoplastic | KS | |
| 32 | 11.1 | 0 | R | 2 | <0.2 | 0.57 | 0.33 | 2.1 | NA | NA | normal | KS | ||
| 33 | 12.3 | 1 | L | 2 | 0.2 | 0.44 | 0.2 | 1 | NA | NA | NA | HH | ||
| 34 | 13.3 | 0 | R | 1.5 | 0.2 | 0.86 | 0.33 | 1.6 | 92 | 459 | normal | HH | ||
| 35 | left congenital facial paralysis,left cophosis and right deafness, semicircular canals anomalies,cleft palate,bicuspid aortic valve | 13,5 | NA | L+R | NA | NA | NA | NA | NA | NA | NA | L absentR hypoplastic | CHARGE | |
| 36 | 14.6 | 1 | L+R | 2 | 0.2 | 0.67 | 0.33 | 2.9 | 32 | 82 | absent | KS FGFR1 mutation | ||
| 37 | 14.8 | NA | 0 | 8 | 1.4 | 8.5 | 2.8 | 4.4 | 194 | 515 | absent | KS | ||
| 38 | CHARGE | 14.9 | 0 | L+R | 3 | NA | 2.5 | 7 | 2.2 | 73 | 371 | normal | CHARGE | |
| 39 | 15 | 0 | L+R | 2 | 0.2 | 0.4 | 0.5 | 2.1 | 110 | 737 | NA | HH | ||
| 40 | 15.2 | 0 | L+R | 3 | 0.2 | 0.9 | 0.2 | 1.3 | 56 | 525 | normal | HH | ||
| 41 | 15.2 | 1 | 0 | 3.25 | 0.2 | 0.74 | 0.27 | 3.9 | 32 | 366 | hypoplasia | KS | ||
| 42 | father and paternal family: Steinert's desease, hexadactyly | agenesis of the median incisor,hexadactyly,hypospadias,absence of nasal bridge | 16 | 0 | 0 | 7 | 1 | 13 | <1 | <1 | 257 | 191 | NA | HH |
| 43 | 16.2 | 0 | L+R | 3.75 | 0.2 | 5 | 0.3 | 3.5 | NA | NA | NA | HH GnRHR mutation | ||
| 44 | congenital strabismus | 16.8 | 1 | L+R | 1.7 | 0.2 | 1 | 0.2 | 2.2 | 14 | 39 | NA | HH | |
| 45 | transposition of great vessels | 16.8 | NA | 0 | NA | 0.7 | 4.6 | 1.1 | 1.9 | 201 | NA | normal | HH | |
| 46 | 17.6 | 0 | R | 3.75 | <0.5 | <0.5 | <0.5 | 1.5 | <10 | 75 | absent | KS | ||
Anosmia in cases 2,3,13,29,32.
L: left R: right; 1 yes, 0 no;IUGR intrauterin growth retardation.